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Disease Browser
Parent Node:
expandCentral Nervous System Cysts (D020863)
Parent Node:
expandEye Abnormalities (D005124)
Parent Node:
expandSkin Abnormalities (D012868)
..Starting node
..expandOculocerebrocutaneous syndrome (C538088)

       Child Nodes:



 Sister Nodes: 
..expandAcrodermatitis (D000169) Child1
..expandAnetoderma (D057088) Child2
..expandArthropathy, Erosive (C565273)
..expandBarber Say syndrome (C537908)
..expandBlepharophimosis syndrome type 1 (C536233)
..expandBlepharophimosis syndrome type 2 (C536234)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBlepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..expandBook Syndrome (C562993)
..expandCarney Complex (D056733) Child1
..expandCOCOON SYNDROME (OMIM:613630)
..expandComedones, Familial Dyskeratotic (C562838)
..expandCutis Gyrata Syndrome of Beare And Stevenson (C565129)
..expandDermal Ridges, Nelson Syndrome (C565110)
..expandDermal Ridges, Patternless (C565109)
..expandDermoodontodysplasia (C565103)
..expandDyskeratosis Congenita (D019871) Child3
..expandDyskeratosis, Hereditary Benign Intraepithelial (C562551)
..expandEctodermal Dysplasia (D004476) Child144
..expandEhlers-Danlos Syndrome (D004535) Child23
..expandEpidermolysis Bullosa (D004820) Child29
..expandEpithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..expandFamilial popliteal pterygium syndrome (C535891)
..expandHairy palms and soles (C535620)
..expandHemangiomatosis, Cutaneous, with Associated Features (C562438)
..expandHyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..expandHypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
..expandIchthyosis (D007057) Child66
..expandIchthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..expandIncontinentia Pigmenti (D007184) Child2
..expandKeratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..expandMichelin tire baby syndrome (C537575)
..expandMicrophthalmia, syndromic 7 (C537466)
..expandMultiple pterygium syndrome (C537377) Child1
..expandOculocerebrocutaneous syndrome (C538088)
..expandPoikiloderma with Neutropenia (C565820)
..expandPoikiloderma, Hereditary Sclerosing (C562824)
..expandPort-Wine Stain (D019339) Child4
..expandProlidase Deficiency (D056732)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandPterygium Colli, Isolated (C566741)
..expandRidges-off-the-end syndrome (C531754)
..expandRothmund-Thomson Syndrome (D011038) Child5
..expandSclerema Neonatorum (D012593)
..expandSkin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..expandSkin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..expandSkin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..expandSkin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..expandSkin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..expandSkin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..expandSkin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..expandSkin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..expandTight skin contracture syndrome, lethal (C536920)
..expandTrichothiodystrophy Syndromes (D054463) Child5
..expandUrban Schosser Spohn syndrome (C536476)
..expandVascular Hyalinosis (C564750)
..expandWinter Shortland Temple syndrome (C536735)
..expandXeroderma Pigmentosum (D014983) Child16
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8175
Name:Oculocerebrocutaneous syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D005124|MESH:D012868|MESH:D020863
TreeNumbers:C04.588.614.250.387/C538088 |C10.500.142/C538088 |C10.551.240.375/C538088 |C11.250/C538088 |C16.131.384/C538088 |C16.131.666.142/C538088 |C16.131.831/C538088 |C17.800.804/C538088
Synonyms:Delleman syndrome |Oculo-cerebro-cutaneous syndrome |Orbital cyst with cerebral and focal dermal malformations
Slim Mappings:Cancer|Congenital abnormality|Eye disease|Nervous system disease|Skin disease
Reference: MedGen: C538088
MeSH: C538088
OMIM: 164180;

Genes:
Phenotypes
1 HP:0000765Abnormal thorax morphology
2 HP:0001274Agenesis of corpus callosum
3 HP:0001596Alopecia
4 HP:0000528Anophthalmia
5 HP:0003191Cleft ala nasi
6 HP:0000175Cleft palate
7 HP:0001374Congenital hip dislocation
8 HP:0000028Cryptorchidism
9 HP:0001305Dandy-Walker malformation
10 HP:0000625Eyelid coloboma
11 HP:0000324Facial asymmetry
12 HP:0007510Focal dermal aplasia/hypoplasia
13 HP:0002282Gray matter heterotopia
14 HP:0002079Hypoplasia of the corpus callosum
15 HP:0001249Intellectual disability
16 HP:0000568Microphthalmia
17 HP:0000639Nystagmus
18 HP:0001144Orbital cyst
19 HP:0007115Orbital encephalocele
20 HP:0001250Seizure
21 HP:0003745Sporadic
Disease Causing ClinVar Variants